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. 2013 Sep 18;22(5):688–695. doi: 10.1038/ejhg.2013.208

Figure 4.

Figure 4

Methylation status of the −587 SNP. (a) Bioinformatic predictions of CpG island length. Black circles represent a predicted CpG island length of 264 bp when the −587 G allele is present. Grey circles represent a CpG island length of 204 bp when the −587 A allele is present. Grey boxes indicated methylated CG dinucleotides. R=G or A. (b) Bisulfite sequence analysis on genotyped lymphoblastoid lines from the SAFHS population. Line designations and −587 genotype are shown on the left. Black boxes indicate methylation. White boxes indicate no methylation. ‘A' represents the alternate allele at −587, which is not a substrate for CpG methylation. The grey shading indicates heterozygote cell lines. Near complete methylation is seen at the −587 G allele. The methylation status at −587 appears to effect methylation at −720, a non-variant site.